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Locus assignment of human a globin mutations by selective amplification and direct sequencing
Author(s) -
Dodé Catherine,
And Jacques Rochette,
Krishnamoorthy Rajagopal
Publication year - 1990
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1990.tb07884.x
Subject(s) - genetics , locus (genetics) , gene , globin , biology , mutant , microbiology and biotechnology , dna sequencing , dna , computational biology
S ummary We describe a simple approach for molecular characterization and locus assignment of structural mutants by direct sequencing of enzymatically amplified DNA selective to α 1 and α 2 globin gene regions. Nucleotide substitution of two structural variants (Stanleyville II α 2 78Lys and J Mexico α 2 54Glu ) were determined and their encoding loci were specified. The amplified segment encompasses sequences upstream of the CAAT box to downstream of the Poly(A) addition signal. Hence all of the α globin structural variants and most of the nondeletion α thalassaemic mutants should be characterizable by this approach.